A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6915219



Internal ID9679586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:893425..893789hg38UCSC Ensembl
Outerchr7:933062..933426hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733675
Supporting Variants
SamplesSSM016
Known GenesGET4
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6915219
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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